Linked Data
ClinVar Variation Id:
8012
ClinVar RCV Id:
RCV000008476
dbSNP Id:
rs121909182
PubMed:
PMID:15044640
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2326027A>G , CM000678.2:g.2326027A>G | GRCh38 |
| NC_000016.9:g.2376028A>G , CM000678.1:g.2376028A>G | GRCh37 |
| NC_000016.8:g.2316029A>G | NCBI36 |
| NG_011790.1:g.19720T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301732.10:c.302T>C MANE Select | ENSP00000301732.5:p.Leu101Pro | |
| ENST00000301732.9:c.302T>C | ENSP00000301732.5:p.Leu101Pro | |
| ENST00000382381.7:c.302T>C | ENSP00000371818.3:p.Leu101Pro | |
| ENST00000563623.5:n.865T>C | ||
| ENST00000567910.1:c.302T>C | ENSP00000454397.1:p.Leu101Pro | |
| NM_001089.2:c.302T>C | NP_001080.2:p.Leu101Pro | |
| NM_001089.3:c.302T>C MANE Select | NP_001080.2:p.Leu101Pro |